| publication name | Proteasome subunit beta type-8 (PSMB8) gene Polymorphisms in Vitiligo: A possible predictor of auditory involvement |
|---|---|
| Authors | fATMA MOHAMED EL-ESAWY1 , HEBA MOHAMED ABD EL-KAREEM2 , Ayman Abdell-All Mohamady3 , AMANY MOHAMMED MOHAMMED AGAMY4 , REHAB MOHAMMED SALEM5 |
| year | 2021 |
| keywords | |
| journal | |
| volume | Not Available |
| issue | Not Available |
| pages | Not Available |
| publisher | Not Available |
| Local/International | Local |
| Paper Link | Not Available |
| Full paper | download |
| Supplementary materials | Not Available |
Abstract
Proteasome subunit beta type-8 (PSMB8) is a protein that contributes to -2- the complete assembly of 20 S proteasome complexes which play a role in the pathogenesis of vitiligo. Aim of the work: The study aimed to evaluate the association between PSMB8 gene polymorphisms with vitiligo to assess its clinical significance among an Egyptian sample of vitiligo patients. Subjects and methods: Genomic DNA was isolated from blood samples of 100 vitiligo patients and 100 control subjects and detection of PSMB8 polymorphisms was done by Real Time PCR. Data analysis was carried out for the entire cohort. Statistics were performed using software. Audiological evaluation including pure-tone audiometry, extended high-frequency audiometry, transient evoked otoacoustic emissions, and auditory brainstem response was carried out. Results: There was a significant difference between PSMB8 genotypes and alleles distribution in patients and control groups. Ten percent of the study sample had sensorineural hearing loss. The patients with hearing loss were significantly older (p=0.0002), had significantly later age of onset (p=0.0007), longer duration (p=0.0021), higher BMI (p=0.045) and higher VASI scores (p=0.0015). All of them suffered from extensive forms of vitiligo (generalized and universal). Regarding the VIT rs2071543 polymorphism, all of vitiligo patients with hearing loss were carrying the CA and AA genotypes. None of them carried the reference genotype; CC. The A allele of VIT rs2071543 was significantly associated with hearing affection (p=0.024) Conclusion: PSMB8 polymorphism was associated with the susceptibility to develop vitiligo and has clinical significance among the studied group of Egyptian patients. Factors predicting auditory abnormalities should be further studied for early detection -3- and management